RESUMO
The prognosis after relapse of high-grade osteosarcoma is poor and complete resection of all tumors is essential for survival. A 6-year old was diagnosed with high-grade osteosarcoma and treated according to the COSS-96 protocol. Within 5 years from initial diagnosis, five osteosarcoma relapses occurred and every time it was possible to achieve complete surgical remission. Additional treatments included chemotherapy and dendritic cell-based cancer immune therapy. Since the end of therapy of the 5th relapse, he is alive for 11½ years. Our experience further supports that aggressive surgery can help to achieve long-term survival even in patients with multiple osteosarcoma relapses.
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Neoplasias Ósseas/terapia , Osteossarcoma/terapia , Prevenção Secundária/métodos , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Neoplasias Ósseas/patologia , Criança , Humanos , Masculino , Recidiva Local de Neoplasia , Osteossarcoma/patologiaRESUMO
PURPOSE: Fetal obstructive uropathy is a leading cause of loss of renal function. Characterizing the molecular fingerprint of cellular responses to obstruction in a fetal model of complete unilateral ureteral obstruction may help elucidate the activated mechanisms and suggest new therapeutic interventions. MATERIAL AND METHODS: Unilateral ureteral obstruction was created in 3 sheep fetuses at day 60 of gestation. For transcriptome analysis total RNA was extracted from vital renal biopsies 2 weeks after intervention from obstructed kidneys and from control kidneys of untreated twins. cDNA preparation, hybridization to the GeneChip® Bovine Genome Array and array scanning were done according to manufacturer protocols. Bioinformatics analysis was used to derive functional biological processes linked to obstructive uropathy. Quantitative reverse-transcriptase-polymerase chain reaction and immunohistochemistry were used to validate microarray results. RESULTS: Seven biological processes were identified as significantly affected by differentially regulated features that characterize unilateral ureteral obstruction, namely protein metabolism and modification, other metabolism, neuronal activity, ligand mediated signaling, amino acid metabolism, coenzyme/prosthetic group metabolism and rRNA metabolism. Literature mining identified 17 candidate genes previously reported as key in the context of unilateral ureteral obstruction, related pathological mechanisms or other kidney diseases. CONCLUSIONS: Combined transcriptome and bioinformatics analysis allowed the identification of enriched processes in the fetal sheep model of unilateral ureteral obstruction that are likely associated with renal damage but to our knowledge have not been previously identified. Future clarification of these molecular fingerprints may eventually provide therapeutic targets and early predictive markers involved in the pathogenesis of fetal uropathy.
Assuntos
Transcriptoma , Obstrução Ureteral/genética , Animais , Biologia Computacional , Modelos Animais de Doenças , OvinosRESUMO
Dedicator of cytokinesis 8 protein (DOCK8) deficiency is a combined immunodeficiency disorder characterized by an expanding clinical picture with typical features of recurrent respiratory or gastrointestinal tract infections, atopic eczema, food allergies, chronic viral infections of the skin, and blood eosinophilia often accompanied by elevated serum IgE levels. The only definitive treatment option is allogeneic hematopoietic stem cell transplantation (HSCT). We report a patient with early severe manifestation of DOCK8 deficiency, who underwent unrelated allogeneic HSCT at the age of 3 years following a reduced toxicity conditioning regimen. The transplant course was complicated by pulmonary aspergilloma pretransplantation, adenovirus (ADV) reactivation, and cytomegalovirus (CMV) pneumonitis 4 weeks after transplantation. With antifungal and antiviral treatment the patient recovered. Seven months after transplantation the patient is in excellent clinical condition. Eczematous rash, chronic viral skin infections, and food allergies have subsided, associated with normalization of IgE levels and absolute numbers of eosinophils. Chimerism analysis shows stable full donor chimerism. DOCK8 deficiency can be successfully cured by allogeneic HSCT. This treatment option should be considered early after diagnosis, as opportunistic infections and malignancies that occur more frequently during the natural course of the disease are associated with higher morbidity and mortality.
Assuntos
Fatores de Troca do Nucleotídeo Guanina/deficiência , Transplante de Células-Tronco Hematopoéticas , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/terapia , Condicionamento Pré-Transplante , Pré-Escolar , Análise Mutacional de DNA , Feminino , Fatores de Troca do Nucleotídeo Guanina/genética , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Síndromes de Imunodeficiência/imunologia , Mutação , Linhagem , Condicionamento Pré-Transplante/efeitos adversos , Transplante HomólogoRESUMO
We evaluated long-term outcome and genomic profiles in the Austrian Neuroblastoma Trial A-NB94 which applied a risk-adapted strategy of treatment (RAST) using stage, age and MYCN amplification (MNA) status for stratification. RAST ranged from surgery only to intensity-adjusted chemotherapy, single or multiple courses of high-dose chemotherapy (HDT) followed by autologous stem cell rescue depending on response to induction chemotherapy, and irradiation to the primary tumor site. Segmental chromosomal alterations (SCAs) were investigated retrospectively using multi- and pan-genomic techniques. The A-NB94 trial enrolled 163 patients. Patients with localized disease had an excellent ten-year (10y) event free survival (EFS) and overall survival (OS) of 99 ± 1% and 93 ± 2% whilst it was 80 ± 13% and 90 ± 9% for infants with stage 4S and for infants with stage 4 non-MNA disease both 83 ± 15%. Stage 4 patients either >12 months or ≤12 months but with MNA had a 10y-EFS and OS of 45 ± 8% and 47 ± 8%, respectively. SCAs were present in increasing frequencies according to stage and age: in 29% of localized tumors but in 92% of stage 4 tumors (p < 0.001), and in 39% of patients ≤ 12 months but in 63% of patients > 12 months (p < 0.001). RAST successfully reduced chemotherapy exposure in low- and intermediate-risk patients with excellent long-term results while the outcome of high-risk disease met contemporary trials.
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The incidence of gastrointestinal stromal tumors (GISTs) in children is exceptionally low. However, during the last decade these tumors attracted increasing attention, because they were found to express the cell surface transmembrane receptor kit (CD117) that has tyrosine kinase activity. This tyrosine kinase can be semi-selectively inhibited by signal transduction inhibitors such as imatinib mesylate (Glivec), which is a competitive inhibitor of c-kit, c-abl, platelet-derived growth factor receptor-alpha (PDGFR-alpha) and PDGFR-beta, and abl-related gene (arg). The authors present the clinical, radiographic, and pathological findings of 4 children who were diagnosed with gastric GIST. One of them had an incomplete Carney triad including GIST and mediastinal paraganglioma. All 4 patients presented with anemia and anemia-related symptoms and underwent total resection of the tumor. One patient received additional chemotherapy (in the pre-imatinib era) and 2 patients received a short course of imatinib mesylate. With a follow-up of 116, 55, 23, and 10 months all patients are alive in first complete continuous remission. In children and adolescents, particularly in female patients, GISTs should be included in the differential diagnosis of anemia secondary to gastrointestinal hemorrhage. Complete surgical resection is the mainstay of treatment for this tumor, with imatinib mesylate restricted to patients with advanced or metastatic tumors. Since late recurrences (up to 30 years following initial diagnosis) are reported, a life-long follow-up is mandatory in these patients.
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Tumores do Estroma Gastrointestinal/diagnóstico por imagem , Tumores do Estroma Gastrointestinal/patologia , Neoplasias Gástricas/diagnóstico por imagem , Neoplasias Gástricas/patologia , Adolescente , Antineoplásicos/uso terapêutico , Benzamidas , Criança , Feminino , Tumores do Estroma Gastrointestinal/tratamento farmacológico , Humanos , Mesilato de Imatinib , Masculino , Piperazinas/uso terapêutico , Proteínas Tirosina Quinases/antagonistas & inibidores , Proteínas Proto-Oncogênicas c-kit/química , Proteínas Proto-Oncogênicas c-kit/metabolismo , Pirimidinas/uso terapêutico , Radiografia , Neoplasias Gástricas/tratamento farmacológico , Resultado do TratamentoRESUMO
PURPOSE: Although tumor resection is the mainstay of treatment for localized neuroblastoma, there are no established guidelines indicating which patients should be operated on immediately and which should undergo surgery after tumor reduction with chemotherapy. In an effort to develop such guidelines, the LNESG1 study defined surgical risk factors (SRFs) based on the imaging characteristics. PATIENTS AND METHODS: A total of 905 patients with suspected localized neuroblastoma were registered by 10 European countries between January 1995 and October 1999; 811 of 905 patients were eligible for this analysis. RESULTS: Information on SRFs was obtained for 719 of 811 patients; 367 without and 352 with SRFs. Of these 719 patients, 201 patients (four without and 197 with SRFs) underwent biopsy only. An attempt at tumor excision was made in 518 patients: 363 of 367 patients without and 155 of 352 patients with SRFs (98.9% v 44.0%). Complete excision was achieved in 271 of 363 patients without and in 72 of 155 patients with SRF (74.6% v 46.4%), near-complete excision was achieved in 81 and 61 patients (22.3% v 39.3%), and incomplete excision was achieved in 11 and 22 patients (3.0% v 14.2%), respectively. There were two surgery-related deaths. Nonfatal surgery-related complications occurred in 45 of 518 patients (8.7%) and were less frequent in patients without SRFs (5.0% v 17.4%). Associated surgical procedures were also less frequent in patients without SRFs (1.6% v 9.7%). CONCLUSION: The adoption of SRFs as predictors of adverse surgical outcome was validated because their presence was associated with lower complete resection rate and greater risk of surgery-related complications. Additional studies aiming to better define the surgical approach to localized neuroblastoma are warranted.
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Neoplasias Abdominais/cirurgia , Neoplasias de Cabeça e Pescoço/cirurgia , Neuroblastoma/cirurgia , Gestão de Riscos , Neoplasias Torácicas/cirurgia , Neoplasias Abdominais/patologia , Criança , Europa (Continente)/epidemiologia , Neoplasias de Cabeça e Pescoço/patologia , Humanos , Complicações Intraoperatórias/epidemiologia , Complicações Intraoperatórias/mortalidade , Neuroblastoma/patologia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/mortalidade , Sistema de Registros/estatística & dados numéricos , Fatores de Risco , Neoplasias Torácicas/patologiaRESUMO
Cardiac troponin T (cTnT) is considered as a specific marker for acute myocardial infarction. Here, we present a case with elevated cTnT, determined by a third-generation assay, without signs of a myocardial lesion. Routine investigation of a 66-year-old female patient with indolent B-cell lymphoma revealed increased serum levels of creatine kinase (CK), MB fraction of CK (CK-MB), and cTnT, although she did not complain of cardiac symptoms. Electrocardiographic monitoring, echocardiography, magnetic resonance computed angiography, and percutaneous coronary angiography excluded myocardial damage. However, the close follow-up showed a steady increase of CK-MB and cTnT levels and gradual development of weakness in both thighs. A biopsy of the right quadriceps muscle led to the diagnosis of inclusion body myositis. In contrast to cTnT, cardiac troponin I could not be detected retrospectively in any of her serum samples. These results demonstrate for the first time that cTnT is elevated in patients with inclusion body myositis.
Assuntos
Músculo Esquelético/patologia , Miocárdio/patologia , Miosite de Corpos de Inclusão/sangue , Troponina T/sangue , Idoso , Biomarcadores/sangue , Creatina Quinase/sangue , Diagnóstico Diferencial , Feminino , Humanos , Linfoma de Células B/complicações , Miosite de Corpos de Inclusão/complicaçõesRESUMO
OBJECTIVE: The aim of the CWS 96 Study was to achieve an optimal treatment in children and adolescents with soft tissue sarcoma (STS) implementing a further refinement of risk-adapted allocation to chemotherapy, surgery and radiotherapy. METHODS: Treatment stratification was based on tumour histology, TNM status, postsurgical stage, localisation and age. Local tumour control was ensured by surgery and risk-adapted radiotherapy. RESULTS: From 1995 to 2002, 89 patients were registered in Austria. The 3-year event-free survival (EFS) and overall survival rates (OS) were 63% +/- 6% and 71% +/- 6%, respectively. 59/89 patients had localised RMS-like (rhabdomayosarcoma) STS (EFS 73% +/- 7%), 14 had localised NON-RMS STS (EFS 54% +/- 16%) and 15 patients had metastatic disease at diagnosis (EFS 33% +/- 12%), 1 patient had fibromatosis. The EFS rates at 3 years in patients with localised RMS-like tumours according to risk group were 92% +/- 8% for low and standard risk (12 patients) and 67% +/- 8% for high risk (47 patients). Favourable primary tumour sites of nonmetastatic RMS-like STS i.e. orbit, head/neck nonparameningeal or genitourinary non-bladder/prostate were diagnosed in 15 patients (1/15 patients died). In 44 patients with unfavourable localisation such as parameningeal, genitourinary bladder/prostate, extremity and others, 7 deceased. The 3 year EFS according to histology in patients with RMS-like STS was 61% +/- 11% for RME (embryonal RMS ) (28 patients) and 71% +/- 15% for RMA (alveolar RMS) (10 patients). The most common treatment failure was local relapse occurring in 21% of patients in the high-risk group. CONCLUSION: Risk-adapted individualisation of treatment led to a reduction of chemotherapy in the low and standard risk group without compromising survival. The outcome of RME and RMA was similar in this cohort of patients. These preliminary results after a median observation time of 2.5 years confirm the CWS 96 strategy.
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Medição de Risco/métodos , Sarcoma/mortalidade , Sarcoma/terapia , Adolescente , Adulto , Áustria/epidemiologia , Criança , Pré-Escolar , Estudos de Coortes , Intervalo Livre de Doença , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Prognóstico , Fatores de Risco , Sarcoma/diagnóstico , Análise de Sobrevida , Resultado do TratamentoRESUMO
OBJECTIVE: The objective of the study is to present longitudinal observations in antenatally detected congenital lung malformations (CLM), particularly pulmonary sequestration (PS) and cystic adenomatoid malformation (CAM). METHODS: Fetuses found to have a CLM on prenatal ultrasound (US) were included in this study and followed up until delivery. In all newborns radiographs and computerized tomography (CT) studies of the thorax were performed. Surgical procedures included sequesterectomy, lobectomy, segmentectomy, and non-anatomic resection. Based on prenatal US findings, intrauterine course, postpartum chest radiographs and CT scans, as well as clinical signs and surgical findings patients were divided into six groups. RESULTS: Over a period of 6 years, routine prenatal US revealed suggestion of CLM in a series of 35 consecutive fetuses. In six cases pregnancy was terminated or the fetuses suffered fetal demise. Another four fetuses became symptomatic in utero when sequential scanning revealed hydrops, hydrothorax, and enlargement of cysts or polyhydramnios. Three cases in this group received serial therapeutic amniocentesis and serial puncture of either the hydrothorax or intrapulmonary cysts. After postpartum treatment in the intensive care unit surgical procedures were performed uneventfully and confirmed the diagnosis of CAM, PS or hybrid type lesions. In 11 patients US findings were considered to demonstrate spontaneous resolution of the lesion, but disappearance without sequelae could be confirmed only in six infants. Five infants were shown to have persistent CLM on postpartum CT scans. These infants underwent resection of the lesion within the first year of life. In 11 fetuses CLM were continuously demonstrated during pregnancy with only slight changes in size and structure. Postpartum the infants were asymptomatic and were subjected to a systematic plan of diagnostic work-up and treatment. Surgery in these infants revealed a large number of hybrid type lesions (n=5). In three infants, the primary diagnosis of PS or CAM had to be corrected during the diagnostic and therapeutic work-up. CONCLUSION: CLM are diagnosed antenatally with an increasing frequency and are shown to be quite different from previously applied concepts. The expected clinical outcome is far better than thought to be possible.
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Doenças Fetais/diagnóstico por imagem , Anormalidades do Sistema Respiratório/diagnóstico por imagem , Aborto Legal , Adulto , Sequestro Broncopulmonar/diagnóstico por imagem , Sequestro Broncopulmonar/cirurgia , Malformação Adenomatoide Cística Congênita do Pulmão/diagnóstico por imagem , Malformação Adenomatoide Cística Congênita do Pulmão/cirurgia , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Pneumonectomia/métodos , Prognóstico , Estudos Prospectivos , Anormalidades do Sistema Respiratório/cirurgia , Ultrassonografia Pré-NatalRESUMO
BACKGROUND: Septic complications lead to a high mortality rate in very low birthweight infants (VLBWI). Therefore, prognostic markers for the development of sepsis attach importance to start an efficient therapy as early as possible. AIMS: Functional and phenotypical variables of blood monocytes in the cord and peripheral blood were investigated to evaluate the parameters for predicting early-onset and late-onset sepsis (nosocomial infections). STUDY DESIGN: In a prospective study, 25 VLBWI were investigated. METHODS: In the cord blood taken immediately after birth, the capacity of the monocytes to phagocytose non-opsonized E. coli bacteria by flow cytometry and the ex-vivo production of tumor necrosis factor (TNF)-alpha, interleukin (IL)-1 beta and IL-6 (enzyme-linked immunoassay (ELISA)) after lipopolysaccharide (LPS) stimulation were measured. At the third day, the HLA-DR expression on the monocytes (flow cytometry) and the LPS-induced cytokine production were measured from the peripheral blood. RESULTS: Five VLBWI already developed early septic complications after 24-72 h, while the other three infants had late-onset sepsis 10-18 days after birth. The prognostic significance for early-onset sepsis was highest for the decreased monocyte phagocytic capacity (sensitivity and specificity: 100%) and for the LPS-induced formation of TNF-alpha and IL-1 beta in cord blood. Moreover, in septic VLBWI, the HLA-DR expression on the monocytes was lowered on day 3 after birth. The prognostic significance for late-onset sepsis was highest for TNF-alpha and IL-1 beta levels in the peripheral blood on the third day after birth. CONCLUSIONS: The determination of phagocytosis in the cord blood seems to be a reliable parameter for predicting early-onset sepsis and offers the possibility for a forward start of an antibiotic therapy.
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Doenças do Prematuro/sangue , Recém-Nascido de muito Baixo Peso , Monócitos/fisiologia , Fagocitose/fisiologia , Sepse/sangue , Biomarcadores/sangue , Infecção Hospitalar/sangue , Infecção Hospitalar/fisiopatologia , Escherichia coli , Sangue Fetal/citologia , Sangue Fetal/metabolismo , Antígenos HLA-DR/biossíntese , Humanos , Recém-Nascido , Doenças do Prematuro/fisiopatologia , Interleucina-1/biossíntese , Interleucina-1/sangue , Interleucina-6/biossíntese , Interleucina-6/sangue , Ativação Linfocitária , Monócitos/efeitos dos fármacos , Estudos Prospectivos , Sensibilidade e Especificidade , Sepse/patologia , Fator de Necrose Tumoral alfa/biossínteseRESUMO
Between 1986 and 2000 183 Austrian children and adolescents with non-Hodgkin's lymphoma (NHL) and mature B-cell acute leukemia (B-ALL) were enrolled in 3 consecutive studies of the Berlin-Frankfurt-Münster (BFM) Group. In trial NHL-BFM 86, patients were stratified according to the histologic subtype and clinical stage. In the succeeding studies NHL-BFM 90 and 95, treatment stratification was additionally based on the speed of tumor response to therapy and for children with B-cell NHL/B-ALL also on the pre-therapeutic serum lactic dehydrogenase level. Event-free survival rates were 84% +/- 6% in trial NHL-BFM 86 (n = 39) and 86% +/- 4% in both trials NHL-BFM 90 (n = 67) and NHL-BFM 95 (n = 77). Patients with lymphoblastic lymphoma (mainly with T-cell phenotypes) had an excellent prognosis with an ALL-type chemotherapy regimen (n = 49; relapse, n = 1), whereas an intensive, short-pulse therapy delivered within a 2- to 4-month period was found to be highly efficacious in children with B-cell NHL/B-ALL (n = 114; relapse, n = 6; progression, n = 5). Patients with anaplastic large cell lymphoma (ALCL) who were treated with similar alternating short courses of multi-agent chemotherapy had a less good outcome (n = 20; relapse, n = 6, progression, n = 3). Children with B-cell NHL and B-ALL who failed initial therapy also had a dismal prognosis (10/11 patients died). Local radiotherapy as a part of lymphoma therapy was completely abandoned in study NHL-BFM 90 and surgical interventions were confined to specific situations such as complete resection in localized B-cell NHL and ALCL, diagnostic biopsy and second-look operation. In conclusion, our results showed that the BFM treatment strategy for lymphoblastic lymphoma and B-cell NHL/B-ALL was highly successful in the majority of patients; however, optimal treatment for children with ALCL has not yet been defined. As a consequence, larger trials at an international level are necessary to find new prognostic markers that might define more precisely those patients who need further intensification of first-line treatment or novel therapy.
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Linfoma de Burkitt/terapia , Linfoma não Hodgkin/terapia , Adolescente , Antineoplásicos/administração & dosagem , Antineoplásicos/uso terapêutico , Linfoma de Burkitt/diagnóstico , Linfoma de Burkitt/tratamento farmacológico , Linfoma de Burkitt/mortalidade , Criança , Pré-Escolar , Interpretação Estatística de Dados , Intervalo Livre de Doença , Feminino , Seguimentos , Humanos , Lactente , Linfoma de Células B/diagnóstico , Linfoma de Células B/tratamento farmacológico , Linfoma de Células B/mortalidade , Linfoma de Células B/terapia , Linfoma não Hodgkin/diagnóstico , Linfoma não Hodgkin/tratamento farmacológico , Linfoma não Hodgkin/mortalidade , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidade , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Prognóstico , Estudos Prospectivos , Fatores de Risco , Análise de Sobrevida , Fatores de Tempo , Resultado do TratamentoRESUMO
OBJECTIVE: To determine the attitude of referring pediatricians towards the decision of treatment modalities for undescended testis (UDT) in neurologic impaired boys (NIB). METHODS AND MATERIALS: An online questionnaire was offered to registered pediatricians in Austria and Germany for online completion. RESULTS: 221 male (61.6%) and 138 female (38.4%) pediatricians completed the survey; 326 (90.8%) believe that UDT should be treated according to national guidelines; 31 (8.6%) believe that UDT should be treated according to the parental wish, whereas only 2 (0.6%) tend to no treatment at all. Tumor prophylaxis, further sexual life, legal concerns, risks of anesthesia, and the choice of the parents have major impact on the perception of UDT. Moreover, fertility and limited life expectancy seem to be of minor importance only. In general, Pearson χ2 test could not identify age and sex of pediatricians as significant predictor of how the importance of the treatment of UDT is appraised. CONCLUSION: From the pediatric point of view UDT in NIB is an important issue and should be treated according to guidelines. Nevertheless, this study indicates the problems in decision-making and choosing the best management for UDT in NIB. Undoubtedly, further ethical discussion is needed to optimize treatment of UDT in NIB.
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Atitude do Pessoal de Saúde , Paralisia Cerebral/psicologia , Criptorquidismo/cirurgia , Pesquisas sobre Atenção à Saúde , Pediatria/normas , Adulto , Áustria/epidemiologia , Paralisia Cerebral/epidemiologia , Criptorquidismo/epidemiologia , Criptorquidismo/psicologia , Feminino , Alemanha/epidemiologia , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Orquidopexia/psicologia , Pais/psicologia , Guias de Prática Clínica como Assunto , Prática Profissional/normas , Qualidade de Vida , Fatores de Risco , Adulto JovemRESUMO
Nonfamilial cardiomyopathies in childhood have been only sporadically ascribed to endocrine disorders. We report on a 4-month-old male infant presenting with Cushing's syndrome associated with excessive body weight (8.9 kg; >97th percentile) and features of virilization (Tanner stage 2 for pubic hair development). Abdominal sonography showed a large adrenal tumor. Echocardiography revealed myocardial hypertrophy with severe subaortic obstruction. Blood tests showed excessive androgen and cortisol serum levels with absent circadian rhythm as well as suppressed corticotropin. Urine catecholamine levels were within the normal range. Tumor resection with general anesthesia was performed after preparation with antihypertensive and anticongestive drug therapy. Continuous intravenous hydrocortisone substitution was started intraoperatively and subsequently tapered and switched to oral administration after 12 days. A gradual reduction in glucocorticoid substitution and its discontinuation after a total duration of 9 months were well tolerated. Histopathologic workup revealed an adrenocortical tumor of intermediate dignity. Postoperative tumor staging excluded both residual primary tumor and metastases. Both a normalization of body weight and myocardial mass were observed. The present article is, to our knowledge, the first to describe severe hypertrophic obstructive cardiomyopathy caused by an adrenocortical tumor and provides novel detailed data on postoperative glucocorticoid management.
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Neoplasias do Córtex Suprarrenal/complicações , Cardiomiopatia Hipertrófica/etiologia , Córtex Suprarrenal/patologia , Córtex Suprarrenal/cirurgia , Neoplasias do Córtex Suprarrenal/diagnóstico , Neoplasias do Córtex Suprarrenal/patologia , Neoplasias do Córtex Suprarrenal/cirurgia , Androgênios/sangue , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/patologia , Cardiomiopatia Hipertrófica/cirurgia , Síndrome de Cushing/diagnóstico , Síndrome de Cushing/etiologia , Síndrome de Cushing/patologia , Ecocardiografia , Humanos , Hidrocortisona/sangue , Lactente , Masculino , Estadiamento de Neoplasias , UltrassonografiaRESUMO
PURPOSE: The aim of this study was to test the predictive value of interleukin (IL) 8 in the assessment of intestinal involvement in necrotizing enterocolitis (NEC). METHODS: Forty infants with surgically treated NEC were classified into 3 groups based on intestinal involvement during laparotomy: focal (n = 11), multifocal (n = 16), and panintestinal (n = 13). Preoperatively obtained serum levels of IL-8, C-reactive protein, white blood cell count, and platelet count were correlated with intestinal involvement using logistic regression models. RESULTS: Interleukin 8 correlated significantly with intestinal involvement in infants with surgically treated NEC (odds ratio, 1.74; confidence interval, 1.27-2.39; P < .001). An exploratory IL-8 cutoff value of 449 pg/mL provided a specificity of 81.8% and sensitivity of 82.8% to discriminate focal from multifocal and panintestinal disease. An IL-8 cutoff value of 1388 pg/mL provided a specificity of 77.8% and a sensitivity of 76.9% to discriminate panintestinal disease from focal and multifocal disease. CONCLUSIONS: To our knowledge, this is the first study to demonstrate a significant correlation of IL-8 with intestinal involvement in advanced NEC in a large patient population. Our results indicate that IL-8 may be a promising biomarker for assessing intestinal involvement in infants with advanced NEC.
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Enterocolite Necrosante/sangue , Doenças do Prematuro/sangue , Interleucina-8/sangue , Intestinos/patologia , Bacteriemia/complicações , Bacteriemia/microbiologia , Biomarcadores , Proteína C-Reativa/análise , Enterocolite Necrosante/complicações , Enterocolite Necrosante/patologia , Enterocolite Necrosante/cirurgia , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/patologia , Doenças do Prematuro/cirurgia , Laparotomia , Contagem de Leucócitos , Masculino , Pneumatose Cistoide Intestinal/sangue , Pneumatose Cistoide Intestinal/complicações , Pneumatose Cistoide Intestinal/diagnóstico , Valor Preditivo dos Testes , Cuidados Pré-Operatórios , Curva ROC , Sensibilidade e Especificidade , Índice de Gravidade de DoençaRESUMO
OBJECTIVE: Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. MATERIALS AND METHODS: This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. RESULTS: There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head-neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. CONCLUSION: Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases.
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Anormalidades Congênitas/diagnóstico , Imageamento por Ressonância Magnética/métodos , Neoplasias/congênito , Neoplasias/diagnóstico , Diagnóstico Pré-Natal/métodos , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
OBJECTIVE: Ovarian cysts are the most frequently encountered intra-abdominal masses in females in utero. They may, at times, require perinatal intervention. Using magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US) in prenatal diagnosis, we sought to demonstrate the ability to visualize ovarian cysts on prenatal MRI. MATERIALS AND METHODS: This retrospective study included 17 fetal MRI scans from 16 female fetuses (23-37 gestational weeks) with an MRI diagnosis of ovarian cysts after suspicious US findings. A multiplanar MRI protocol was applied to image and to characterize the cysts. The US and MRI findings were compared, and the prenatal findings were compared with postnatal imaging findings or histopathology. RESULTS: Simple ovarian cysts were found in 10/16 cases and complex cysts in 7/16 cases, including one case with both. In 11/16 (69%) cases, US and MRI diagnoses were in agreement, and, in 5/16 (31%) cases, MRI specified or expanded the US diagnosis. In 6/16 cases, postnatal US showed that the cysts spontaneously resolved or decreased in size, and in 1/16 cases, postnatal imaging confirmed a hemorrhagic cyst. In 4/16 cases, the prenatal diagnoses were confirmed by surgery/histopathology, and for the rest, postnatal correlation was not available. CONCLUSION: Our results illustrate the MRI visualization of ovarian cysts in utero. In most cases, MRI will confirm the US diagnosis. In certain cases, MRI may provide further diagnostic information, additional to US, which is the standard technique for diagnosis, monitoring, and treatment planning.
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Imageamento por Ressonância Magnética/métodos , Cistos Ovarianos/patologia , Diagnóstico Pré-Natal/métodos , Adulto , Feminino , Humanos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Adulto JovemRESUMO
BACKGROUND: Hypospadias is a challenging field of urogenital reconstructive surgery, with different techniques currently being used. OBJECTIVE: Evaluate international trends in hypospadias surgery. DESIGN, SETTING, AND PARTICIPANTS: Paediatric urologists, paediatric surgeons, urologists, and plastic surgeons worldwide were invited to participate an anonymous online questionnaire (http://www.hypospadias-center.info). MEASUREMENTS: General epidemiologic data, preferred technique in the correction of hypospadias, and preferred technique in the correction of penile curvature were gathered. RESULTS AND LIMITATIONS: Three hundred seventy-seven participants from 68 countries returned completed questionnaires. In distal hypospadias (subcoronal to midshaft), the tubularised incised plate (TIP) repair is preferred by 52.9-71.0% of the participants. Meatal advancement and glanuloplasty (MAGPI) is still a preferred method in glandular hypospadias. In the repair of proximal hypospadias, the two-stage repair is preferred by 43.3-76.6%. TIP repair in proximal hypospadias is used by 0.9-16.7%. Onlay flaps and tubes are used by 11.3-29.5% of the study group. Simple plication and Nesbit's procedure are the techniques of choice in curvature up to 30°; urethral division and ventral incision of the tunica albuginea with grafting is performed by about 20% of the participants in severe chordee. The frequency of hypospadias repairs does not influence the choice of technique. CONCLUSIONS: In this study, we identified current international trends in the management of hypospadias. In distal hypospadias, the TIP repair is the preferred technique. In proximal hypospadias, the two-stage repair is most commonly used. A variety of techniques are used for chordee correction. This study contains data on the basis of personal experience. However, future research must focus on prospective controlled trials.
Assuntos
Hipospadia/cirurgia , Pênis/cirurgia , Procedimentos de Cirurgia Plástica/tendências , Procedimentos Cirúrgicos Urológicos Masculinos/tendências , Adulto , África/epidemiologia , Ásia/epidemiologia , Austrália/epidemiologia , Distribuição de Qui-Quadrado , Europa (Continente)/epidemiologia , Feminino , Pesquisas sobre Atenção à Saúde , Humanos , Hipospadia/epidemiologia , Internet , Masculino , Pessoa de Meia-Idade , América do Norte/epidemiologia , Pênis/anormalidades , América do Sul/epidemiologia , Inquéritos e Questionários , Adulto JovemRESUMO
Extensive ureteral loss in early childhood is a rare but dramatic event. We present the case of a 6-month-old girl with a iatrogenic extensive pyelo-ureteral loss and solitary kidney. She successfully underwent left ureteral substitution using the appendix vermiformis. Left ureteral reconstruction using the appendix vermiformis is a feasible procedure even in very small children.
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Apêndice/cirurgia , Nefropatias/cirurgia , Rim/anormalidades , Procedimentos de Cirurgia Plástica/métodos , Ureter/cirurgia , Obstrução Ureteral/cirurgia , Procedimentos Cirúrgicos Urológicos/métodos , Anastomose Cirúrgica , Apêndice/anormalidades , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Lactente , Rim/cirurgia , Nefropatias/congênito , Nefropatias/diagnóstico , Ureter/anormalidades , Obstrução Ureteral/diagnóstico , Obstrução Ureteral/etiologiaRESUMO
BACKGROUND: Although hypospadias is the most common malformation of the penis, this condition is virtually unknown to the general population. This lack of information may lead to psychological distress to both parents and patients. In this study the content of an Internet-based hypospadias support group is analyzed. MATERIALS AND METHODS: All comments and postings made by members of an online support group between 2001 and 2008 were analyzed. No personalized data were used for evaluation. RESULTS: At the end of 2008, the group consisted of 535 members. In the study period, 3050 postings were published. Major issues discussed in the group were (a) medical questions, exchange of medical knowledge, experience, and history; (b) psychological, ethical, and philosophical aspects; (c) practical questions and recommendations; (d) recommendations for surgeons; and (e) hypospadias in adults. CONCLUSIONS: Online hypospadias support groups play an important role in how parents and patients cope with the condition. Surgeons dealing with hypospadias should be aware of the importance of Internet-based information in the field of hypospadias. They may benefit from the valuable feedback information from patients and parents to improve their practice and outcome.
Assuntos
Bibliometria , Hipospadia , Grupos de Autoajuda , Adulto , Criança , Feminino , Humanos , Hipospadia/psicologia , Internet , Masculino , Pais/psicologia , Pacientes/psicologia , Autoimagem , Grupos de Autoajuda/estatística & dados numéricos , Apoio SocialRESUMO
Bilateral foetal uropathy is the leading cause of chronic renal failure in childhood. Vesico-amniotic shunting (VAS) is a simple, feasible, and widely used procedure for decompressing the foetal urinary system. We report a case of a boy with bilateral foetal uropathy who underwent VAS at a gestational age of 29 weeks. Vesico-abdominal shunt dislodgement occurred and led to urinary ascites and anhydramnios. Postpartal laparotomy showed a shunt perforation between the urinary bladder and the peritoneal cavity.